{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T21:05:59Z","timestamp":1783458359720,"version":"3.55.0"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,7,29]],"date-time":"2022-07-29T00:00:00Z","timestamp":1659052800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Leigh syndrome (LS) is a progressive neurodegenerative disease, characterized by extensive clinical, biochemical, and genetic heterogeneity. Recently, biallelic variants in\n                    <jats:italic>DNAJC30<\/jats:italic>\n                    gene, encoding a protein crucial for the repair of mitochondrial complex I subunits, have been associated with Leber hereditary optic neuropathy and LS. It was suggested that clinical heterogeneity of\n                    <jats:italic>DNAJC30<\/jats:italic>\n                    \u2010associated mitochondrial disease may be attributed to digenic inheritance. We describe three Polish patients, a 9\u2010year\u2010old boy, and female and male siblings, aged 17 and 11\u2009years, with clinical and biochemical manifestations of LS. Exome sequencing (ES) identified a homozygous pathogenic variant in\n                    <jats:italic>DNAJC30<\/jats:italic>\n                    c.152A&gt;G, p.(Tyr51Cys) in the 9\u2010year\u2010old boy. In the siblings, ES identified two\n                    <jats:italic>DNAJC30<\/jats:italic>\n                    variants: c.152A&gt;G, p.(Tyr51Cys) and c.130_131del, p.(Ser44ValfsTer8) in a compound heterozygous state. In addition, both siblings carried a novel heterozygous c.484G&gt;T, p.(Val162Leu) variant in\n                    <jats:italic>NDUFS8<\/jats:italic>\n                    gene. This report provides further evidence for the association of\n                    <jats:italic>DNAJC30<\/jats:italic>\n                    variants with LS.\n                    <jats:italic>DNAJC30<\/jats:italic>\n                    \u2010associated LS is characterized by variable age at onset, movement disorder phenotype and normal or moderately elevated blood lactate level. Identification of a candidate heterozygous variant in\n                    <jats:italic>NDUFS8<\/jats:italic>\n                    supports the hypothesis of digenic inheritance. Importantly,\n                    <jats:italic>DNAJC30<\/jats:italic>\n                    pathogenic variants should be suspected in patients with LS irrespective of optic nerve involvement.\n                  <\/jats:p>","DOI":"10.1111\/cge.14196","type":"journal-article","created":{"date-parts":[[2022,7,21]],"date-time":"2022-07-21T07:36:12Z","timestamp":1658388972000},"page":"438-443","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Expanding the phenotype of\n                    <i>\n                      <scp>DNAJC30<\/scp>\n                      \u2010\n                    <\/i>\n                    associated Leigh syndrome"],"prefix":"10.1111","volume":"102","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4562-1882","authenticated-orcid":false,"given":"Marta","family":"Zawadzka","sequence":"first","affiliation":[{"name":"Department of Developmental Neurology Medical University of Gdansk  Gdansk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6607-5983","authenticated-orcid":false,"given":"Magdalena","family":"Krygier","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology Medical University of Gdansk  Gdansk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1303-1749","authenticated-orcid":false,"given":"Ma\u0142gorzata","family":"Paw\u0142owicz","sequence":"additional","affiliation":[{"name":"Department of Clinical Pediatrics, Medical Faculty of Collegium Medicum University of Warmia and Mazury in Olsztyn  Olsztyn Poland"},{"name":"Department of Pediatric Neurogenetics and Rare Diseases Prof. dr Stanislaw Popowski Regional Specialized Children's Hospital  Olsztyn Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matheus Vernet Machado Bressan","family":"Wilke","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina","family":"Rutkowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Medical University of Warsaw  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naig","family":"Gueguen","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire, D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, Angers, France; UMR CNRS 6214\u2010INSERM 1083 Universit\u00e9 d'Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Desquiret\u2010Dumas","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire, D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, Angers, France; UMR CNRS 6214\u2010INSERM 1083 Universit\u00e9 d'Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric W.","family":"Klee","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa A.","family":"Schimmenti","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Ophthalmology, Otorhinolaryngology, Head and Neck Surgery, Biochemistry and Molecular Biology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6816-0877","authenticated-orcid":false,"given":"Jaros\u0142aw","family":"S\u0142awek","sequence":"additional","affiliation":[{"name":"Department of Neurological and Psychiatric Nursing, Faculty of Health Sciences Medical University of Gdansk  Gdansk Poland"},{"name":"Neurology Department St Adalbert Hospital, Copernicus PL  Gdansk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Procaccio","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire, D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, Angers, France; UMR CNRS 6214\u2010INSERM 1083 Universit\u00e9 d'Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-5526","authenticated-orcid":false,"given":"Rafa\u0142","family":"P\u0142oski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Medical University of Warsaw  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9405-5066","authenticated-orcid":false,"given":"Maria","family":"Mazurkiewicz\u2010Be\u0142dzi\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology Medical University of Gdansk  Gdansk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,7,29]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Rahman S","year":"1993"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI138267"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102021\u2010108235"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac052"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2019.05.011"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.09.014"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102012\u2010101159"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13139"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41419\u2010020\u201003289\u2010w"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI147734"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14196","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14196","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14196","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T05:04:08Z","timestamp":1692680648000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14196"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,29]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1111\/cge.14196"],"URL":"https:\/\/doi.org\/10.1111\/cge.14196","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14196\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14196\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14196\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14196\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14196\/v2\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,29]]},"assertion":[{"value":"2022-05-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}